HsaEX6035574 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185865741-185911780:+
Coord C1 exon
chr1:185865741-185865863
Coord A exon
chr1:185909337-185909508
Coord C2 exon
chr1:185911674-185911780
Length
172 bp
Sequences
Splice sites
3' ss Seq
CTTCTCTTTCTCTCTTATAGGTA
3' ss Score
13.91
5' ss Seq
TAGGTGAGA
5' ss Score
6.95
Exon sequences
Seq C1 exon
GTCGTATTTGTTCTGACTGGAGATTGTGATGACAGGACCCATATTGGATATAAAGTCTATGAAGAAATTGCCTCTACAAGTTCTGGTCAAGTGTTCCATCTGGACAAAAAACAAGTTAATGAG
Seq A exon
GTATTAAAATGGGTAGAAGAAGCAGTACAGGCCTCCAAAGTTCACCTTTTATCCACAGATCATTTGGAACAGGCTGTAAATACTTGGAGAATTCCTTTTGATCCCAGCCTGAAAGAGGTCACTGTGTCTTTGAGTGGGCCTTCTCCAATGATTGAAATTCGCAATCCTTTAG
Seq C2 exon
GGAAGCTGATAAAAAAGGGATTTGGCCTGCATGAGCTATTAAATATCCATAACTCTGCCAAAGTAGTGAATGTGAAAGAGCCAGAGGCTGGAATGTGGACAGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'10-10,'10-8,13-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.056
Domain overlap (PFAM):
C1:
PF135191=VWA_2=FE(23.3=100)
A:
PF135191=VWA_2=PD(2.3=6.9)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCGTATTTGTTCTGACTGGAGA
R:
CACTGTCCACATTCCAGCCTC
Band lengths:
227-399
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains